(Q53341445)

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Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome.

scientific article published on 7 February 2013

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23401378%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome (English)

1 reference

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23401378%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

1 reference

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Hajdu-Cheney syndrome

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based on heuristic

Kiyoko Sameshima

5

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23 February 2020

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23 February 2020

8

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23 February 2020

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Yoko Narumi

1

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23 February 2020

Byung-Joo Min

2

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23 February 2020

Kenji Shimizu

3

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23 February 2020

Itsuro Kazukawa

4

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23 February 2020

Koichi Nakamura

6

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23 February 2020

Tomoki Kosho

7

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23 February 2020

Ok-Hwa Kim

10

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23 February 2020

Yoshimitsu Fukushima

11

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23 February 2020

Woong-Yang Park

12

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23 February 2020

Gen Nishimura

13

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23 February 2020

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7 February 2013

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23 February 2020

American Journal of Medical Genetics

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23 February 2020

161A

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23 February 2020

3

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23 February 2020

518-526

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23 February 2020

Phenotypic overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: a clinical and molecular study in three patients.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35772

21 January 2018

Hajdu--Cheney syndrome: evolution of phenotype and clinical problems

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35772

21 January 2018

Hajdu-Cheney syndrome associated with serpentine fibulae and polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35772

21 January 2018

Serpentine fibula--polycystic kidney syndrome. A variant of the Melnick-Needles syndrome or a distinct entity?

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35772

21 January 2018

Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35772

21 January 2018

Effect of zoledronic acid on acro-osteolysis and osteoporosis in a patient with Hajdu-Cheney syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35772

21 January 2018

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35772

21 January 2018

Cystic kidney disease in Hajdu-Cheney syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35772

21 January 2018

Serpentine fibula--polycystic kidney syndrome and Melnick-Needles syndrome are different disorders

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35772

21 January 2018

Mutations in NOTCH2 in families with Hajdu-Cheney syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35772

21 January 2018

Hajdu-Cheney syndrome: report of a family and a short literature review

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35772

21 January 2018

Further evidence that the Hajdu-Cheney syndrome and the "serpentine fibula-polycystic kidney syndrome" are a single entity.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35772

21 January 2018

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35772

21 January 2018

Hajdu-Cheney syndrome: infantile onset of hydrocephalus and serpentine fibulae.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35772

21 January 2018

Notch regulation of bone development and remodeling and related skeletal disorders

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35772

21 January 2018

Identifiers

10.1002/AJMG.A.35772

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23401378%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

release_mzyedl5xffcyhc7m3w65uvhu4q

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24 November 2022

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Europe PubMed Central

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23 February 2020

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